Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Srpk1'

620442

Institutional Source

Beutler Lab

Gene Symbol

Srpk1

Ensembl Gene

ENSMUSG00000004865

Gene Name

serine/arginine-rich protein specific kinase 1

Synonyms

SR protein-specific kinase 1

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28806622-28841683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28840990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 12 (K12T)

Ref Sequence

ENSEMBL: ENSMUSP00000116259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114767] [ENSMUST00000130643]

AlphaFold

O70551

Predicted Effect

unknown
Transcript: ENSMUST00000114767
AA Change: K12T

Predicted Effect

probably damaging
Transcript: ENSMUST00000130643
AA Change: K12T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: K12T

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	229	6.8e-11	PFAM
Pfam:Pkinase	80	231	5.6e-23	PFAM
low complexity region	241	255	N/A	INTRINSIC
coiled coil region	264	297	N/A	INTRINSIC
Pfam:Pkinase	468	646	3e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly damaging	Het

Other mutations in Srpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Srpk1	APN	17	28,825,291 (GRCm39)	missense	probably damaging	1.00
IGL01792:Srpk1	APN	17	28,818,441 (GRCm39)	splice site	probably benign
IGL03153:Srpk1	APN	17	28,811,240 (GRCm39)	missense	possibly damaging	0.57
H8562:Srpk1	UTSW	17	28,821,707 (GRCm39)	missense	probably benign	0.32
R0481:Srpk1	UTSW	17	28,809,218 (GRCm39)	splice site	probably benign
R1160:Srpk1	UTSW	17	28,818,748 (GRCm39)	missense	probably benign	0.05
R2188:Srpk1	UTSW	17	28,813,163 (GRCm39)	missense	probably damaging	1.00
R4640:Srpk1	UTSW	17	28,827,698 (GRCm39)	missense	probably benign
R4716:Srpk1	UTSW	17	28,840,982 (GRCm39)	missense	probably benign	0.16
R4880:Srpk1	UTSW	17	28,810,199 (GRCm39)	missense	probably damaging	0.98
R5458:Srpk1	UTSW	17	28,818,446 (GRCm39)	splice site	probably null
R5533:Srpk1	UTSW	17	28,821,733 (GRCm39)	missense	probably damaging	1.00
R6383:Srpk1	UTSW	17	28,809,036 (GRCm39)	missense	probably damaging	1.00
R6766:Srpk1	UTSW	17	28,821,727 (GRCm39)	missense	possibly damaging	0.85
R7483:Srpk1	UTSW	17	28,813,192 (GRCm39)	missense	probably benign	0.11
R8344:Srpk1	UTSW	17	28,839,398 (GRCm39)	missense	unknown
R8416:Srpk1	UTSW	17	28,813,229 (GRCm39)	missense	probably damaging	1.00
R8970:Srpk1	UTSW	17	28,818,493 (GRCm39)	missense	probably benign
R9630:Srpk1	UTSW	17	28,819,404 (GRCm39)	missense	probably benign	0.00
R9731:Srpk1	UTSW	17	28,825,297 (GRCm39)	missense	probably damaging	1.00
R9741:Srpk1	UTSW	17	28,818,652 (GRCm39)	missense	probably benign
X0058:Srpk1	UTSW	17	28,821,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCCACATGATTCCCGGAG -3'
(R):5'- TGGTAGGCTCTGTGTTCACC -3'

Sequencing Primer
(F):5'- GGGCGAATCACACAGCG -3'
(R):5'- TGAAGCGGCGTCACTCTTG -3'

Posted On

2020-01-23